Canonical Allele Identifier: CA1433068865

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002203C= , CM000666.2:g.1002203C=	GRCh38
NC_000004.11:g.995991C= , CM000666.1:g.995991C=	GRCh37
NC_000004.10:g.985991C=	NCBI36
NG_008103.1:g.20207C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.972+42C=	ENSP00000247933.4:n.972+42C=
ENST00000514224.2:c.972+42C= MANE Select	ENSP00000425081.2:n.972+42C=
ENST00000652070.1:n.1028+42C=
ENST00000247933.8:c.972+42C=	ENSP00000247933.4:n.972+42C=
ENST00000514224.1:c.576+42C=	ENSP00000425081.1:n.576+42C=
ENST00000514698.5:n.1014C=
NM_000203.4:c.972+42C=	NP_000194.2:n.972+42C=
NR_110313.1:n.1060+42C=
XM_006713882.2:c.576+42C=	XP_006713945.1:n.576+42C=
XM_011513459.1:c.973C=	XP_011511761.1:p.Leu325=
XM_011513460.1:c.831+42C=	XP_011511762.1:n.831+42C=
XM_011513461.1:c.765+42C=	XP_011511763.1:n.765+42C=
XM_011513462.1:c.684+42C=	XP_011511764.1:n.684+42C=
XM_011513463.1:c.684+42C=	XP_011511765.1:n.684+42C=
XR_924947.1:n.1041+42C=
NM_000203.5:c.972+42C= MANE Select	NP_000194.2:n.972+42C=
NM_001363576.1:c.576+42C=	NP_001350505.1:n.576+42C=
XM_011513461.2:c.765+42C=	XP_011511763.1:n.765+42C=
XM_017008163.1:c.12+42C=	XP_016863652.1:n.12+42C=